Detection of heterozygotes for intragenic deletions in families with recurrence of Duchenne or Becker muscular dystrophy

被引：0

作者：

Miorin, M

Todorova, A

Vitiello, L

Rosa, M

Mostacciuolo, ML

Danieli, GA

机构：

[1] UNIV PADUA,DEPT BIOL,I-35121 PADUA,ITALY

[2] UNIV HOSP,LAB MOL PATHOL,SOFIA,BULGARIA

[3] UNIV PADUA,CRIBI,I-35100 PADUA,ITALY

来源：

BASIC AND APPLIED MYOLOGY | 1997年 / 7卷 / 3-4期

关键词：

DMD/BMD; deletions; carrier detection; semi-quantitative multiplex PCR;

D O I：

暂无

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

More than 60% of Duchenne/Becker muscular dystrophy (DMD/BMD) cases is due to deletions in the dystrophin gene, therefore the large majority of female carriers is heterozygote for an intragenic deletion. A new protocol is presented here for detection of these heterozygotes, based on multiplex semi-quantitative PCR amplification of genomic DNA. The method is non-radioactive, fast and easy to perform. The technique was successfully applied to a series of 60 females from DMD/BMD families, in which polymorphic DNA markers failed to define the carrier status.

引用

页码：265 / 269

页数：5

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